26 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... > Neonatal and infantile ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Acute Fatty Liver of Pregnancy (AFLP)
Pathophysiology:
 • Defect in fetal free fatty acid metabolism products →
Pregnancy (AFLP) Pathophysiology ... = nonspecific (nausea ... ) Differential Diagnosis ... Maternal Support - Critical ... obstetrics #obgyn #diagnosis
Asterixis is a type of negative myoclonus characterized by irregular lapses of posture of various body
characterized by irregular lapses ... associated with liver ... #PhysicalExam #clinical ... #diagnosis #video
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... Alzheimer - 1st cause ... hyperorality, - 25% genetic ... Dementia - 2nd cause ... #Geriatrics #Workup
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Passive neck flexion causes ... While the pathophysiology ... Video by Dr. ... Sign #Meningitis #Clinical ... #Pediatrics #Peds
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... Alzheimer's (99% of cases ... Alzheimer's (1% of cases ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
GrepMed Handbook Clinical ... malignancy Pathophysiology ... GH stimulates liver ... phenytoin, minoxidil), genetic ... or refractory cases
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Sarcoidosis - Diagnosis ... survival is 93-95% Pathophysiology ... renal failure Clinical ... symptoms are not caused ... heart (2-5%), liver
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Phosphatase Of Clinical ... synthesized in: liver ... Most cases diagnosed ... collection with EDTA Pathophysiology ... Phosphatase: • Other causes